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  2. Vitreoretinopathy
  3. CTNNA1
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Vitreoretinopathy

Gene: CTNNA1

Green List (high evidence)
CTNNA1 (catenin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000044115
EnsemblGeneIds (GRCh37): ENSG00000044115
OMIM: 116805, Gene2Phenotype
CTNNA1 is in 4 panels

1 review

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Three independent families reported with familial exudative vitreoretinopathy (FEVR)
Sources: Literature
Created: 12 Apr 2021, 5:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial exudative vitreoretinopathy

Publications

Created: 12 Apr 2021, 5:43 a.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Familial exudative vitreoretinopathy
OMIM
116805
Clinvar variants
Variants in CTNNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: ctnna1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: ctnna1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Teresa Zhao (Victorian Clinical Genetics Services)

gene: CTNNA1 was added gene: CTNNA1 was added to Vitreoretinopathy. Sources: Literature Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNA1 were set to 33497368 Phenotypes for gene: CTNNA1 were set to Familial exudative vitreoretinopathy Review for gene: CTNNA1 was set to GREEN